Article
Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.
Human biology - 1 Feb 1999
Raskin S, Phillips J A, Kaplan G, McClure M, Vnencak-Jones C, Rozov T, Cardieri J M, Marostica P, Abreu F, Giugliani R, Reis F, Rosario N A, Ludwig N, Pereira L, Faucz F, Gabardo J, Culpi L
Abstract excerpt
Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the most common mutation (DF508) in Brazilian patients of European origin is 47%. To determine the frequency o...
Topics
- Adolescent
- Adult
- Brazil
- Chi-Square Distribution
- Child
- Child, Preschool
- Cystic Fibrosis
- DNA, Satellite
- Europe
- Gene Frequency
- Genetic Heterogeneity
- Humans
- Infant
- Male
- Microsatellite Repeats